rs80357972

minus

Geno	Mag	Summary
(-;TG)	6	BRCA1 variant considered pathogenic for breast cancer
(TG;TG)	0	common in clinvar

Make rs80357972(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43115742

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357972
dbSNP (classic)	rs80357972
ClinGen	rs80357972
ebi	rs80357972
HLI	rs80357972
Exac	rs80357972
Gnomad	rs80357972
Varsome	rs80357972
LitVar	rs80357972
Map	rs80357972
PheGenI	rs80357972
Biobank	rs80357972
1000 genomes	rs80357972
hgdp	rs80357972
ensembl	rs80357972
geneview	rs80357972
scholar	rs80357972
google	rs80357972
pharmgkb	rs80357972
gwascentral	rs80357972
openSNP	rs80357972
23andMe	rs80357972
SNPshot	rs80357972
SNPdbe	rs80357972
MSV3d	rs80357972
GWAS Ctlg	rs80357972

Max Magnitude

6

rs80357972, also known as 236delTG, c.117_118delTG and p.Cys39_Asp40TerProfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357972(-;-)
Alt	rs80357972(-;-)
Reference	Rs80357972(TG;TG)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41267759_41267760delCA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047373.2, RCV000077484.5, RCV000162845.1,